Hemophilia history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

History

Symptoms of Haemophilia A and B

  • Most patients present with bleeding during the neonatal period or with bleeding / large haematoma following minor trauma as a toddler.In the worst cases, bleeding occurs for no reason. Internal bleeding may occur anywhere and bleeding into joints is common.The severity of symptoms vary. Bleeding is the main symptom of the disease. It is often first seen when an infant is circumcised. Other bleeding problems are seen when the infant starts crawling and walking. Mild cases may go unnoticed until later in life. Symptoms may first occur after surgery or injury. Internal bleeding may occur anywhere.
  • Characteristic symptoms vary with severity. In general symptoms are internal or external bleeding episodes, which are called "bleeds". People with more severe haemophilia suffer more severe and more frequent bleeds, while people with mild haemophilia usually suffer more minor symptoms except after surgery or serious trauma. Moderate haemophiliacs have variable symptoms which manifest along a spectrum between severe and mild forms. Internal bleeding is common in people with severe haemophilia and some individuals with moderate haemophilia. The most characteristic type of internal bleed is a joint bleed where blood enters into the joint spaces. This is most common with severe haemophiliacs and can occur spontaneously (without evident trauma). If not treated promptly, joint bleeds can lead to permanent joint damage and disfigurement. Bleeding into soft tissues such as muscles and subcutaneous tissues is less severe but can lead to damage and requires treatment.
  • Children with mild to moderate haemophilia may not have any signs or symptoms at birth especially if they do not undergo circumcision. Their first symptoms are often frequent and large bruises and haematomas from frequent bumps and falls as they learn to walk. Swelling and bruising from bleeding in the joints, soft tissue, and muscles may also occur. Children with mild haemophilia may not have noticeable symptoms for many years. Often, the first sign in very mild haemophiliacs is heavy bleeding from a dental procedure, an accident, or surgery. Females who are carriers usually have enough clotting factors from their one normal gene to prevent serious bleeding problems, though some may present as mild haemophiliacs.
  • Symptoms can include:
    • Bleeding into joints with associated pain and swelling
    • Blood in the urine or stool
    • Bruising
    • Gastrointestinal tract and urinary tract hemorrhage
    • Nosebleeds
    • Prolonged bleeding from cuts, tooth extraction, and surgery
    • Spontaneous bleeding

Haemophilia C

The symptoms of Haemophilia C are the same as those for other forms of haemophilia, mainly:

  • Prolonged bleeding from injuries.
  • Frequent or heavy nosebleeds.
  • Traces of blood in the urine.
  • Heavy menstrual bleeding in females.

References

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